Publications

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2021
Helman, G. et al. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Hum Mutat 42, 19-24 (2021).
Ghosh, S. G. et al. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
2020
Jones, L. K. et al. A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development 147, (2020).
2019
Lenk, G. M. et al. Cerebral hypomyelination associated with biallelic variants of FIG4. Hum Mutat 40, 619-630 (2019).